Incidental Mutation 'R6781:Meis2'
ID |
531401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Meis2
|
Ensembl Gene |
ENSMUSG00000027210 |
Gene Name |
Meis homeobox 2 |
Synonyms |
Mrg1, Meis2, A430109D20Rik, Stra10 |
MMRRC Submission |
044895-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.854)
|
Stock # |
R6781 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
115693545-115896320 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 115879636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 228
(H228L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028639]
[ENSMUST00000074285]
[ENSMUST00000102538]
[ENSMUST00000110906]
[ENSMUST00000110907]
[ENSMUST00000110908]
|
AlphaFold |
P97367 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028639
AA Change: H228L
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000028639 Gene: ENSMUSG00000027210 AA Change: H228L
Domain | Start | End | E-Value | Type |
Pfam:Meis_PKNOX_N
|
110 |
194 |
3.8e-48 |
PFAM |
HOX
|
276 |
341 |
4.27e-12 |
SMART |
low complexity region
|
395 |
402 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074285
AA Change: H227L
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000073898 Gene: ENSMUSG00000027210 AA Change: H227L
Domain | Start | End | E-Value | Type |
HOX
|
275 |
340 |
4.27e-12 |
SMART |
low complexity region
|
375 |
388 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102538
AA Change: H228L
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000099597 Gene: ENSMUSG00000027210 AA Change: H228L
Domain | Start | End | E-Value | Type |
HOX
|
276 |
341 |
4.27e-12 |
SMART |
low complexity region
|
388 |
395 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110906
AA Change: H227L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000106531 Gene: ENSMUSG00000027210 AA Change: H227L
Domain | Start | End | E-Value | Type |
HOX
|
275 |
340 |
4.27e-12 |
SMART |
low complexity region
|
382 |
395 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110907
AA Change: H228L
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000106532 Gene: ENSMUSG00000027210 AA Change: H228L
Domain | Start | End | E-Value | Type |
HOX
|
276 |
341 |
4.27e-12 |
SMART |
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110908
AA Change: H228L
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000106533 Gene: ENSMUSG00000027210 AA Change: H228L
Domain | Start | End | E-Value | Type |
HOX
|
276 |
341 |
4.27e-12 |
SMART |
low complexity region
|
376 |
389 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1036 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (45/46) |
MGI Phenotype |
FUNCTION: This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcriptional regulators and several members have been shown to be essential contributors to developmental programs. In mice, a knock-out of this gene leads to lethality at embryonic day 14, accompanied with hemorrhaging. Embryos lacking this gene show defects in tissues derived from the neural crest, suggesting a critical role of this gene during cranial and cardiac neural crest cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016] PHENOTYPE: Mice homozygous for a null allele display early fetal lethality with hemorrhaging, persistent truncus arteriosis, absence of cardic valves and defects in other neural crest cell derived tissues. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,593,380 (GRCm39) |
I259N |
possibly damaging |
Het |
Acot12 |
G |
T |
13: 91,932,531 (GRCm39) |
|
probably null |
Het |
AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
Amigo3 |
T |
C |
9: 107,931,162 (GRCm39) |
L195P |
probably damaging |
Het |
Aox4 |
A |
T |
1: 58,284,268 (GRCm39) |
D556V |
probably benign |
Het |
Arhgef40 |
A |
C |
14: 52,235,354 (GRCm39) |
|
probably benign |
Het |
Asb15 |
T |
C |
6: 24,558,674 (GRCm39) |
V63A |
probably benign |
Het |
Bicd1 |
T |
C |
6: 149,414,664 (GRCm39) |
I459T |
possibly damaging |
Het |
Bub1 |
C |
A |
2: 127,649,777 (GRCm39) |
G694W |
probably damaging |
Het |
C4b |
A |
T |
17: 34,961,928 (GRCm39) |
I106N |
probably damaging |
Het |
Clca4b |
T |
C |
3: 144,628,562 (GRCm39) |
I382V |
probably benign |
Het |
Cntnap5a |
A |
C |
1: 116,220,127 (GRCm39) |
S646R |
probably benign |
Het |
Cntnap5c |
C |
T |
17: 58,445,648 (GRCm39) |
Q563* |
probably null |
Het |
Cpn1 |
A |
G |
19: 43,969,343 (GRCm39) |
F107L |
possibly damaging |
Het |
Csrnp3 |
T |
A |
2: 65,852,615 (GRCm39) |
C336S |
probably benign |
Het |
Defa3 |
T |
A |
8: 21,778,277 (GRCm39) |
M87K |
probably benign |
Het |
Dennd2b |
T |
C |
7: 109,124,511 (GRCm39) |
D1110G |
possibly damaging |
Het |
Dmbt1 |
T |
C |
7: 130,648,291 (GRCm39) |
F274L |
probably benign |
Het |
Dnah8 |
TTA |
TTATA |
17: 30,984,698 (GRCm39) |
|
probably null |
Het |
Dnase2b |
T |
C |
3: 146,288,126 (GRCm39) |
H323R |
probably benign |
Het |
Fam83e |
A |
T |
7: 45,371,571 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,158,958 (GRCm39) |
N2269S |
probably damaging |
Het |
Foxa1 |
A |
T |
12: 57,590,043 (GRCm39) |
M59K |
possibly damaging |
Het |
Fpr3 |
T |
C |
17: 18,190,978 (GRCm39) |
V83A |
probably benign |
Het |
Frmd6 |
A |
G |
12: 70,946,417 (GRCm39) |
D615G |
possibly damaging |
Het |
Gfra3 |
T |
C |
18: 34,844,375 (GRCm39) |
K55R |
possibly damaging |
Het |
Gm5414 |
A |
T |
15: 101,534,096 (GRCm39) |
S296T |
possibly damaging |
Het |
Gtf3c1 |
T |
A |
7: 125,258,369 (GRCm39) |
K1234* |
probably null |
Het |
Hltf |
T |
A |
3: 20,152,330 (GRCm39) |
Y609N |
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ift74 |
A |
G |
4: 94,515,539 (GRCm39) |
D152G |
probably damaging |
Het |
Kcnk6 |
T |
C |
7: 28,924,480 (GRCm39) |
Y308C |
probably damaging |
Het |
Klhl29 |
A |
G |
12: 5,141,347 (GRCm39) |
S546P |
probably damaging |
Het |
Map7d1 |
AGGGCAGCC |
AGGGCAGCCGGGCAGCC |
4: 126,134,544 (GRCm39) |
|
probably null |
Het |
Mfsd10 |
A |
T |
5: 34,791,853 (GRCm39) |
M344K |
possibly damaging |
Het |
Mrps33 |
T |
C |
6: 39,782,757 (GRCm39) |
|
probably benign |
Het |
Or2a52 |
A |
G |
6: 43,144,322 (GRCm39) |
E110G |
probably damaging |
Het |
Or4p23 |
A |
T |
2: 88,577,174 (GRCm39) |
N19K |
probably benign |
Het |
Pik3cb |
T |
C |
9: 98,923,045 (GRCm39) |
T996A |
possibly damaging |
Het |
Plekha7 |
A |
G |
7: 115,757,090 (GRCm39) |
|
probably null |
Het |
Ppp1cb |
A |
G |
5: 32,638,106 (GRCm39) |
Y86C |
probably damaging |
Het |
Sass6 |
T |
G |
3: 116,388,773 (GRCm39) |
|
probably benign |
Het |
Slc6a15 |
A |
T |
10: 103,230,928 (GRCm39) |
I218F |
probably damaging |
Het |
Tcf23 |
C |
T |
5: 31,126,304 (GRCm39) |
P61L |
probably benign |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zc3h6 |
T |
C |
2: 128,857,341 (GRCm39) |
F620S |
probably damaging |
Het |
|
Other mutations in Meis2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00590:Meis2
|
APN |
2 |
115,699,274 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00708:Meis2
|
APN |
2 |
115,694,725 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01095:Meis2
|
APN |
2 |
115,694,905 (GRCm39) |
missense |
probably benign |
|
IGL02199:Meis2
|
APN |
2 |
115,830,737 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02562:Meis2
|
APN |
2 |
115,879,627 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02902:Meis2
|
APN |
2 |
115,893,804 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03183:Meis2
|
APN |
2 |
115,890,002 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03205:Meis2
|
APN |
2 |
115,694,731 (GRCm39) |
missense |
probably benign |
0.08 |
P4748:Meis2
|
UTSW |
2 |
115,694,961 (GRCm39) |
missense |
probably benign |
0.03 |
R0369:Meis2
|
UTSW |
2 |
115,893,897 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0410:Meis2
|
UTSW |
2 |
115,694,709 (GRCm39) |
makesense |
probably null |
|
R1465:Meis2
|
UTSW |
2 |
115,889,151 (GRCm39) |
missense |
probably benign |
0.03 |
R1465:Meis2
|
UTSW |
2 |
115,889,151 (GRCm39) |
missense |
probably benign |
0.03 |
R1548:Meis2
|
UTSW |
2 |
115,889,183 (GRCm39) |
missense |
probably damaging |
0.97 |
R1593:Meis2
|
UTSW |
2 |
115,830,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R3835:Meis2
|
UTSW |
2 |
115,752,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Meis2
|
UTSW |
2 |
115,890,044 (GRCm39) |
missense |
probably damaging |
0.99 |
R4756:Meis2
|
UTSW |
2 |
115,830,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Meis2
|
UTSW |
2 |
115,694,893 (GRCm39) |
missense |
probably benign |
|
R5841:Meis2
|
UTSW |
2 |
115,889,145 (GRCm39) |
missense |
probably benign |
|
R5967:Meis2
|
UTSW |
2 |
115,694,790 (GRCm39) |
missense |
probably benign |
0.04 |
R6661:Meis2
|
UTSW |
2 |
115,694,751 (GRCm39) |
missense |
probably damaging |
0.97 |
R7239:Meis2
|
UTSW |
2 |
115,889,484 (GRCm39) |
splice site |
probably null |
|
R7606:Meis2
|
UTSW |
2 |
115,893,801 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7919:Meis2
|
UTSW |
2 |
115,697,788 (GRCm39) |
missense |
probably benign |
0.01 |
R8134:Meis2
|
UTSW |
2 |
115,697,369 (GRCm39) |
missense |
probably benign |
0.22 |
R8797:Meis2
|
UTSW |
2 |
115,694,986 (GRCm39) |
missense |
probably benign |
|
R8881:Meis2
|
UTSW |
2 |
115,889,116 (GRCm39) |
missense |
probably benign |
0.16 |
R9102:Meis2
|
UTSW |
2 |
115,694,760 (GRCm39) |
missense |
probably benign |
0.26 |
R9153:Meis2
|
UTSW |
2 |
115,697,756 (GRCm39) |
missense |
probably benign |
0.10 |
R9497:Meis2
|
UTSW |
2 |
115,694,724 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGAAACCTGTCTTCCTATCAAAAG -3'
(R):5'- CACAGATTAGCATGCCCGTG -3'
Sequencing Primer
(F):5'- AGTAATACTCCCTACACCTTCCTTAG -3'
(R):5'- CGTGGCCACTTCTGAAAATAC -3'
|
Posted On |
2018-08-29 |